Published onChildren's View
By Abny Santicola
Evan was born with a suspected genetic condition that caused delays in his development. At age 4, his condition took a sudden and severe turn.
From pneumonia to bronchitis, Evan was in and out of the hospital constantly. He also began to suffer from neurological events that initially looked like seizures, but soon evolved into involuntary muscle contractions that caused repetitive twisting throughout his entire body. The contractions were incredibly painful, and he struggled to swallow, eat and, at times, even breathe.
“He had no control of his body,” recalls his mother, Ellen. “He was in major crisis all the time. He would cry for hours because he was in so much pain.”
A specialist near the family’s home in Toms River, N.J., referred them to Children’s Hospital of Philadelphia. It was at CHOP that Evan was diagnosed with two complex neurological disorders: chorea (characterized by spasmodic, involuntary movements of the limbs or facial muscles) and dystonia (which causes uncontrollable muscle spasms, twisting and repetitive movements).
Thinking outside the box
At CHOP, Evan had an interdisciplinary team of specialists that included pediatric neurologist Ingo Helbig, MD, neurosurgeon Benjamin Kennedy, MD, and movement disorders specialist Nivedita Thakur, MD. The severity of Evan’s dystonia concerned them, particularly Dr. Thakur.
Dr. Thakur leads CHOP’s Movement Disorders Program, which was established in July 2021 and is one of a small number of dedicated pediatric movement disorders programs in the country. Dr. Thakur is one of the few fellowship-trained neurologists in pediatric movement disorders and neurodegenerative diseases in the world.
Deep brain stimulation (DBS) is a treatment option the Movement Disorders Program offers to some patients with dystonia. While Evan didn’t fit the typical criteria the program uses for DBS treatment, he was at a critical point where he was on multiple medications and was struggling to enjoy life.
Dr. Thakur’s refined understanding of complex movements helped her educate Evan’s mom on how DBS might help him. Dr. Thakur couldn’t guarantee DBS would work, but she assured Ellen that whatever the outcome, she and her team would support the family every step of the way.
In November 2021, Dr. Kennedy implanted a small battery-powered stimulator in Evan’s chest. Extension wires connect the stimulator to leads (electrodes) in the area of the brain that causes dystonia. The electrodes deliver targeted electrical pulses that disrupt the signals that cause the abnormal movements to occur.
“It has been life-changing for him,” says Ellen of the benefits Evan has seen since DBS surgery. “When you have a medically complex child, you have to find the right team. You need a team that thinks outside the box, and this is that team.”
Evan can eat again, he can walk using a walker, and he isn’t in agonizing pain anymore. He has monthly follow-up visits with Dr. Thakur where she adjusts the stimulator’s settings to address his dystonia. Twelve-year-old Evan doesn’t let an appointment go by without giving his favorite CHOP doctors hugs and high fives.
"Dr. Thakur, Dr. Kennedy and Dr. Helbig went into it with open hearts, like, ‘We’re going to do everything we can for Evan.’ There’s no dollar amount for how much that meant to me,” says Ellen. “They care about my son as much as I care about him, and that’s rare. I don’t know what I would have done without them. They’ve held my hands through the worst times of my life, telling me we were going to get through it. It’s that teamwork that has made this possible.”
The Neuroscience Center: Innovative Expertise in Neurological Disorders
The Movement Disorders Program that made such a difference for Evan is part of CHOP’s Neuroscience Center. Launched in 2021, the center brings together CHOP’s highly ranked Divisions of Neurology and Neurosurgery in an innovative partnership of clinical care, education and research.
The Neuroscience Center’s team of over 250 highly specialized clinicians is accelerating the pace toward cutting-edge breakthroughs in areas like biomarker discovery, tissue genomics, outcomes research, cell and gene therapies for neurological diseases, clinical trials, and neuroimaging research partnerships. For families facing the uncertainty of a child’s neurologic disorder, the center provides answers, reassurance and a roadmap for the best possible outcome.
To support the Movement Disorders Program or the Neuroscience Center, contact Freddie Marianacci at firstname.lastname@example.org or 267-595-8850.